ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645502511
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289888
ClinVar RCV Id:
RCV000334924
RCV000861203
RCV001102311
RCV001102312
RCV001354108
RCV002518104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055917.1:p.Ser840Asn
CA554073
NM_015102.5:c.2519G>A